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Glycomics MS Repository for glycan annotations from GlycoWorkbench
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Repository for lectin-assisted multimodality data
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MIRAGE
Sneddon syndrome
Summary
- Synonym
-
- Idiopathic livedo reticularis with systemic involvement
- Definition
- An artery disease that is characterized by onset of livedo reticularis in the second decade and onset of cerebrovascular disease in early adulthood and that has_material_basis_in compound heterozygous mutation in the CECR1 gene (ADA2) on chromosome 22q11.
- Super Class
- artery disease
External Links
- Disease Ontology
- DOID:13096
- Mondo Disease Ontology
- MeSH
- UMLS
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9NZK5 | Adenosine deaminase 2 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000112 | Nephropathy |
| HP:0000708 | Atypical behavior |
| HP:0000726 | Dementia |
| HP:0000822 | Hypertension |
| HP:0000965 | Cutis marmorata |
| HP:0001123 | Visual field defect |
| HP:0001250 | Seizure |
| HP:0001268 | Mental deterioration |
| HP:0001269 | Hemiparesis |
| HP:0001270 | Motor delay |
